Latest Channelopathy Stories
OMAHA, Neb., May 4, 2011 /PRNewswire/ -- Transgenomic, Inc. (OTC/BB: TBIO) announced a significant enhancement to its FAMILION Brugada Syndrome (BrS) test panel at the 2011 Heart Rhythm Society meeting in San Francisco. The expanded panel includes analysis of 9 genes and broadens the test indication to include other J-wave syndromes, including Early Repolarization Syndrome. "The addition of two newly identified J-wave syndrome genes, KCND3 and KCNJ8, reflects Transgenomic's commitment to...
Prospects for recovery of lost vision have brightened with the release of new scientific findings showing that the use of gentle near infra-red light can reverse damage caused by exposure to bright light, up to a month after treatment.The Vision Centre's Dr Krisztina Valter and doctoral researcher Rizalyn Albarracin have successfully demonstrated recovery of vision cells in the retina following near infra-red treatment applied after damage was sustained.Their advance has raised hopes for the...
Vanderbilt University researchers have identified a new gene that can influence a person's risk for developing epilepsy. The findings, reported in the March 29 Proceedings of the National Academy of Sciences, could improve molecular diagnostic tools and point to novel therapeutic targets for epilepsy.The gene, KCNV2, codes for a unique type of potassium channel, a protein that participates in the electrical activity of nerve cells. Disturbed electrical activity in the brain "“ and resulting...
University of Manchester scientists have led an international team to discover new treatments for a rare and potentially lethal childhood disease that is the clinical opposite of diabetes mellitus.Congenital hyperinsulinism (CHI) is a condition where the body's pancreas produces too much insulin "“ rather than too little as in diabetes "“ so understanding the disease has led to breakthroughs in diabetes treatment.This latest study, published in the journal Diabetes today (Wednesday), was...
Patients on drug had significant weight gain, reduced sweat chloride and were less likely to experience a pulmonary exacerbation BETHESDA, Md., Feb. 23, 2011 /PRNewswire-USNewswire/ -- The Cystic Fibrosis Foundation and Vertex Pharmaceuticals announced today that VX-770, an oral medicine in development that targets the defective protein that causes cystic fibrosis, showed promising results in a Phase 3 clinical trial. The trial was designed to evaluate patients age 12 and up who carry at...
Long QT syndrome approximately affects one in every 2,500 people Â-mainly young people. It can cause torsade de pointes episodes, which can trigger sudden death. This study was conducted by researchers of the Hospital Virgen de las Nieves of the University of Granada. The genetic analyses were performed by the laboratory Lorgen in the Health Science Technology Park of GranadaResearchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent...
Screening may be warranted when the disease runs in familiesMutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). The results may help with screening, prevention, and therapy.Focal segmental glomerulosclerosis (FSGS) attacks the kidney's filtering system and causes serious scarring. Approximately 20,000...
SAN CLEMENTE, Calif., Nov. 29, 2010 /PRNewswire/ -- SURFER Magazine is proud to announce this year's SURFER Poll Agent of Change Award to James Dunlop (Executive Director of MOF) and Charles Dunlop (CEO of Ambry Genetics), founders of the Mauli Ola Foundation (MOF). The Foundation will benefit from the proceeds of VIP table sales, and their award will be presented on December 6, 2010 at the 40th annual event. The Agent of Change Award honors organizations and individuals who are working for...
An investigational drug targeting a defective protein that causes cystic fibrosis has been shown to improve lung function in a small study of CF patients, according to findings published Nov. 18, 2010, in the New England Journal of Medicine. The investigational drug, VX-770, appeared to improve function of what is known as CFTR--the faulty protein responsible for CF. It is among the first compounds being developed for CF that specifically targets the root cause of cystic fibrosis.Patients who...
ABBOTT PARK, Ill., Nov. 11, 2010 /PRNewswire/ -- Abbott today awarded the 2010 Thriving Student Achiever Scholarship to Jason Egbert, a student with cystic fibrosis who demonstrates exceptional academic achievement, community service, creative and artistic talent and passion for inspiring others. Jason Egbert from Rexburg, Idaho, was selected for the Thriving Student Achiever Scholarship from a group of 40 outstanding students with cystic fibrosis (CF) who were awarded scholarships totaling...
